Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size

Jingmei Li, Jia Nee Foo, Nils Schoof, Jajini S Varghese, Pablo Fernandez-Navarro, Gretchen L Gierach, Swee Tian Quek, Mikael Hartman, Silje Nord, Vessela N Kristensen, Marina Pollán, Jonine D Figueroa, Deborah J Thompson, Yi Li, Chiea Chuen Khor, Keith Humphreys, Jianjun Liu, Kamila Czene, Per Hall

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Individual differences in breast size are a conspicuous feature of variation in human females and have been associated with fecundity and advantage in selection of mates. To identify common variants that are associated with breast size, we conducted a large-scale genotyping association meta-analysis in 7169 women of European descent across three independent sample collections with digital or screen film mammograms.

METHODS: The samples consisted of the Swedish KARMA, LIBRO-1 and SASBAC studies genotyped on iCOGS, a custom illumina iSelect genotyping array comprising of 211 155 single nucleotide polymorphisms (SNPs) designed for replication and fine mapping of common and rare variants with relevance to breast, ovary and prostate cancer. Breast size of each subject was ascertained by measuring total breast area (mm(2)) on a mammogram.

RESULTS: We confirm genome-wide significant associations at 8p11.23 (rs10086016, p=1.3×10(-14)) and report a new locus at 22q13 (rs5995871, p=3.2×10(-8)). The latter region contains the MKL1 gene, which has been shown to impact endogenous oestrogen receptor α transcriptional activity and is recruited on oestradiol sensitive genes. We also replicated previous genome-wide association study findings for breast size at four other loci.

CONCLUSIONS: A new locus at 22q13 may be associated with female breast size.

Original languageEnglish
Pages (from-to)666-73
Number of pages8
JournalJournal of Medical Genetics
Issue number10
Publication statusPublished - Oct 2013


  • Chromosomes, Human, Pair 22
  • Chromosomes, Human, Pair 8
  • Female
  • Genome-Wide Association Study
  • Humans
  • Mammary Glands, Human
  • Mammography
  • Organ Size
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci


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